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Orphanet Journal of Rare Diseases|August 4, 2022
Incidence of thrombotic microangiopathies in Quebec: insight from a laboratory centralizing ADAMTS-13 testingClémence Merlen, Emmanuelle Pépin, Ousmane Barry, et al.
Orphanet Journal of Rare Diseases|September 15, 2021
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosisChristina van Stein, Sabrina Klank, Marianne Grüneberg, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trialsA R Müller, J R Zinkstok, N N J Rommelse, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
Orphanet Journal of Rare Diseases|July 16, 2016
Analysis of voice quality in patients with late-onset Pompe diseaseKrzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Exploring the uncharted role of cell senescence in rare diseasesPiera Selvaggio, Esi Taci, Alessandra Barassi, et al.
Orphanet Journal of Rare Diseases|August 27, 2025
Clinical features and genetic analysis of A20 haploinsufficiencyFumin Xue, Chao An, Zhi Lei, et al.
Orphanet Journal of Rare Diseases|May 11, 2015
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patientsAnais Brassier, Stephanie Gobin, Jean Baptiste Arnoux, et al.
Orphanet Journal of Rare Diseases|May 22, 2015
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)Neal J Weinreb, David N Finegold, Eleanor Feingold, et al.
Orphanet Journal of Rare Diseases|May 7, 2015
Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefitsTrinity Mahede, Geoff Davis, April Rutkay, et al.
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